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BRCA1/2 基因突变携带者的癌症风险管理策略的成本效益和比较效果:系统评价。

Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review.

机构信息

Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia.

Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia.

出版信息

Genet Med. 2018 Oct;20(10):1145-1156. doi: 10.1038/gim.2017.255. Epub 2018 Jan 11.

DOI:10.1038/gim.2017.255
PMID:29323669
Abstract

PURPOSE

To review the evidence for the effectiveness and cost-effectiveness of cancer risk management interventions for BRCA carriers.

METHODS

Comparative effectiveness and cost-effectiveness analyses were identified by searching scientific and health economic databases. Eligible studies modeled the impact of a cancer risk management intervention in BRCA carriers on life expectancy (LE), cancer incidence, or quality-adjusted life years (QALYs), with or without costs.

RESULTS

Twenty-six economic evaluations and eight comparative effectiveness analyses were included. Combined risk-reducing salpingo-oophorectomy and prophylactic mastectomy resulted in the greatest LE and was cost-effective in most analyses. Despite leading to increased LE and QALYs, combined mammography and breast magnetic resonance imaging (MRI) was less likely to be cost-effective than either mammography or MRI alone, particularly for women over 50 and BRCA2 carriers. Variation in patient compliance to risk management interventions was incorporated in 11/34 studies with the remaining analyses assuming 100% adherence.

CONCLUSION

Prophylactic surgery and intensive breast screening are effective and cost-effective in models of BRCA carrier risk management. Findings were based predominantly on assuming perfect adherence to recommendations without assessment of the health-care resource use and costs related to engaging patients and maximizing compliance, meaning the real-world impact on clinical outcomes and resource use remains unclear.

摘要

目的

回顾用于 BRCA 携带者的癌症风险管理干预措施的有效性和成本效益的证据。

方法

通过搜索科学和健康经济数据库,确定了比较有效性和成本效益分析。合格的研究对 BRCA 携带者的癌症风险管理干预措施对预期寿命 (LE)、癌症发病率或质量调整生命年 (QALYs) 的影响进行建模,无论是否考虑成本。

结果

共纳入 26 项经济评估和 8 项比较有效性分析。联合应用输卵管卵巢预防性切除术和预防性乳房切除术可使 LE 最大,并在大多数分析中具有成本效益。尽管联合乳腺 X 线摄影和乳腺磁共振成像(MRI)可增加 LE 和 QALYs,但与单独进行乳腺 X 线摄影或 MRI 相比,联合应用不太可能具有成本效益,特别是对于 50 岁以上的女性和 BRCA2 携带者。在 11/34 项研究中纳入了患者对风险管理干预措施的依从性变化,其余分析则假设 100%的依从性。

结论

预防性手术和强化乳腺筛查在 BRCA 携带者的风险管理模型中是有效且具有成本效益的。这些发现主要基于对建议的完全依从性的假设,而没有评估与患者参与和最大限度提高依从性相关的医疗资源使用和成本,这意味着其对临床结果和资源使用的实际影响尚不清楚。

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本文引用的文献

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HLA基因多态性是BRCA1致病等位基因携带者中与年龄相关的乳腺癌外显率的一个修饰因子。
Breast Cancer Res Treat. 2025 Jan;209(2):341-354. doi: 10.1007/s10549-024-07497-2. Epub 2024 Sep 21.
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Using polygenic risk modification to improve breast cancer prevention: study protocol for the PRiMo multicentre randomised controlled trial.多基因风险修饰改善乳腺癌预防:PRiMo 多中心随机对照试验研究方案。
BMJ Open. 2024 Aug 5;14(8):e087874. doi: 10.1136/bmjopen-2024-087874.
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Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter Program.影响携带乳腺癌遗传倾向女性参加风险管理计划的因素:来自法国多中心项目的真实世界数据。
Oncologist. 2024 Aug 5;29(8):e967-e975. doi: 10.1093/oncolo/oyae057.
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Cost-Effectiveness of Gene-Specific Prevention Strategies for Ovarian and Breast Cancer.卵巢癌和乳腺癌基因特异性预防策略的成本效益分析。
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A cost-utility analysis of and testing in high-risk breast cancer patients and family members in Thailand: a cost-effective policy in resource-limited settings.在泰国高危乳腺癌患者及其家属中进行和检测的成本效用分析:资源有限环境下具有成本效益的政策。
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The Japanese breast cancer society clinical practice guidelines for breast cancer screening and diagnosis, 2022 edition.日本乳腺癌学会乳腺癌筛查和诊断临床实践指南,2022 年版。
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